Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM123054)
  • known disease mutation at this position (HGMD CM950110)
  • known disease mutation: rs3855 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52532509C>TN/A show variant in all transcripts   IGV
HGNC symbol ATP7B
Ensembl transcript ID ENST00000542656
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.1664G>A
g.53122G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs28942075
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs3855 (pathogenic for Wilson disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950110)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950110)
known disease mutation at this position, please check HGMD for details (HGMD ID CM123054)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950110)
known disease mutation at this position, please check HGMD for details (HGMD ID CM123054)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950110)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.9871
4.3771
(flanking)-0.4090.85
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal signal is predicted to be ok
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 46 / 46
chromosome 13
strand -1
last intron/exon boundary 1493
theoretical NMD boundary in CDS 1397
length of CDS 1587
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 1664
gDNA position
(for ins/del: last normal base / first normal base)		 53122
chromosomal position
(for ins/del: last normal base / first normal base)		 52532509
original gDNA sequence snippet GGAGCCCTGTGACATTCTTCGACACGCCCCCCATGCTCTTT
altered gDNA sequence snippet GGAGCCCTGTGACATTCTTCAACACGCCCCCCATGCTCTTT
original cDNA sequence snippet GGAGCCCTGTGACATTCTTCGACACGCCCC
altered cDNA sequence snippet GGAGCCCTGTGACATTCTTCAACACGCCCC
wildtype AA sequence MKKSFAFDNV GYEGGLDGLG PSSQVATSTV RILGMTCQSC VKSIEDRISN LKGIISMKVS
LEQGSATVKY VPSVVCLQQV CHQIGDMGFE ASIAEGKAAS WPSRSLPAQE AVVKLRVEGM
TCQSCVSSIE GKVRKLQGVV RVKVSLSNQE AVITYQPYLI QPEDLRDHVN DMGFEAAIKS
KVAPLSLGPI DIERLQSTNP KRPLSSANQN FNNSETLGHQ GSHVVTLQLR IDGMHCKSCV
LNIEENIGQL LGVQSIQVSL ENKTAQVKYD PSCTSPVALQ RAIEALPPGN FKVSLPDGAE
GSGTDHRSSS SHSPGSPPRN QVQGTCSTTL IAIAGMTCAS CVHSIEGMIS QLEGVQQISV
SLAEGTATVL YNPSVISPEE LRAAIEDMGF EASVVSESCS TNPLGNHSAG NSMVQTTDGT
PTSVQEVAPH TGRLPANHAP DILAKSPQST RAVAPQKCFL QIKGMTCASC VSNIERNLQK
EAAPRWVVLL RSGLQISETQ VSQHGRAHRP GHKHCLCLFS GHPGGCCG*
mutated AA sequence N/A
speed 0.60 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project